Degos disease – malignant atrophic papulosis or cutaneointestinal lethal syndrome: rarity of the disease

Abstract

Eduardo Pirolla,1 Felipe Fregni,1 Irene K Miura,2 Antonio Carlos Misiara,3 Fernando Almeida,3 Esdras Zanoni3 1Spaulding Rehabilitation Network Research Laboratory, Harvard Medical School, Boston, MA, USA; 2University of São Paulo, Sirio Libanes Hospital, São Paulo, Brazil; 3Sirio Libanes Hospital, São Paulo, Brazil Background: Degos disease is a very rare syndrome with a rare type of multisystem vasculopathy of unknown cause that affects the skin, gastrointestinal tract, and central nervous system. Other organs such as the kidneys, lungs, pleura, liver, heart, and eyes, can also be involved. Objective: To highlight the incidence of Degos disease with regard to age and sex, discuss the necessity of its accurate and early diagnosis, and demonstrate the most current techniques for its diagnosis; to discuss whether early therapeutic intervention can impact patient prognosis; and to present a literature review about this disease. Design: With a retrospective, observational, nonrandomized trial, we described the evolution of the different forms of Degos disease and referenced the literature. Data sources: Research on rare documented cases in the literature, including two cases of potentially lethal form of the disease involving the skin and gastrointestinal system and, possibly, the lungs, kidneys, and central nervous system. A case of the benign form of the disease involving the skin was observed by the authors. Main outcome measures: Differences between outcomes in patients with the cutaneointestinal form and skin-only form of the disease. There was one fatal outcome. We reviewed possible new approaches to diagnosis and treatment. Results: The study demonstrated the rapid evolution of the aggressive and malignant form of the disease. It also described newly accessible Phase I diagnostic tools being currently researched as well as new therapeutic approaches. Limitation: The rarity of the disease, with only eleven cases throughout the literature. Conclusion: The gastrointestinal form of Degos disease can be lethal. Its vascular etiology has finally been confirmed; however, new and more accurate early diagnostic modalities need to be developed. There are new therapeutic possibilities, but the studies of them are still in the early stages and have not yet shown the full effectiveness of these new therapies. Keywords: multisystem vasculopathy, diagnosis, lethal, gastrointestinal, Degos disease